RESUMEN
The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromosomal abnormalities, microdeletions of AZF genes or some deleterious genic mutations could pass through generations. These genetic abnormalities can cause in the offspring of these patients male infertility, ambiguous external genitalia, mental retardation, and other birth defects. We studied 165 infertile men whose infertility was attributable to testicular problems (60 were azoospermic, 100 were oligospermic and 5 were asthenospermic). We studied 100 metaphases per patient with GTG banding obtained from temporary lymphocyte culture for chromosomal abnormality detection and performed a genomic DNA analysis using 28 Y chromosome-specific sequence-tagged sites for Y AZF microdeletion detection. Karyotyping revealed somatic anomalies in 16 subjects (16/165 = 9.6%). Of these 16, 12 were in the azoospermic group (12/60 = 20%) and 4 were in the oligospermic group (4/100 = 4%). The most common chromosomal anomaly was Klinefelter syndrome (10/165 = 6%). Microdeletions of AZF genes were detected in 12 subjects (12/160 = 7.5%). The frequencies detected are similar to those described previously. These results show the importance of genetic evaluation of infertile males prior to assisted reproduction. Such evaluation can lead to genetic counseling and, consequently, to primary and secondary prevention of mental retardation and birth defects.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Y/genética , Eliminación de Gen , Infertilidad Masculina/genética , Humanos , Cariotipificación , Masculino , Oligospermia/genética , Reacción en Cadena de la PolimerasaRESUMEN
The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromosomal abnormalities, microdeletions of AZF genes or some deleterious genic mutations could pass through generations. These genetic abnormalities can cause in the offspring of these patients male infertility, ambiguous external genitalia, mental retardation, and other birth defects. We studied 165 infertile men whose infertility was attributable to testicular problems (60 were azoospermic, 100 were oligospermic and 5 were asthenospermic). We studied 100 metaphases per patient with GTG banding obtained from temporary lymphocyte culture for chromosomal abnormality detection and performed a genomic DNA analysis using 28 Y chromosome-specific sequence-tagged sites for Y AZF microdeletion detection. Karyotyping revealed somatic anomalies in 16 subjects (16/165 = 9.6 percent). Of these 16, 12 were in the azoospermic group (12/60 = 20 percent) and 4 were in the oligospermic group (4/100 = 4 percent). The most common chromosomal anomaly was Klinefelter syndrome (10/165 = 6 percent). Microdeletions of AZF genes were detected in 12 subjects (12/160 = 7.5 percent). The frequencies detected are similar to those described previously. These results show the importance of genetic evaluation of infertile males prior to assisted reproduction. Such evaluation can lead to genetic counseling and, consequently, to primary and secondary prevention of mental retardation and birth defects.
Asunto(s)
Humanos , Masculino , Deleción Cromosómica , Cromosomas Humanos Y/genética , Eliminación de Gen , Infertilidad Masculina/genética , Cariotipificación , Oligospermia/genética , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVE: To evaluate the effects of the addition of sodium citrate and/or fructose to medium containing egg yolk, glycerol and TEST buffer (TES(N-tris[hydroxymethyl] methyl-2-aminoethanesulfonic acid) plus Tris (hydroxymethyl)-aminomethane) on human sperm cryopreservation. DESIGN: Sperm cryopreservation in three cryoprotective media, followed by thawing 3 weeks or 3 months later. SETTING: University outpatient clinic. MATERIAL AND METHODS: Twenty-two semen samples from fertile men were evaluated before and after freezing for 3 weeks or 3 months in three different cryoprotective media consisting of a stock solution (TEST-YOLK) to which 20% sodium citrate was added plus 2% fructose (TESTC I) or to which 20% sodium citrate, but no fructose, was added (TESTC-II).I MAIN OUTCOME MEASURES: Measurements of quantitative sperm motility, progressive motility, vitality and recovery rates before and after freezing. RESULTS: Before freezing, the addition of the different media increased sperm progressive motility but did not change quantitative motility or vitality. Sample freezing reduced all the above variables both after 3 weeks and after 3 months, with no difference between the two freezing times. Semen analysis two hours after thawing showed a significant fall in both motility and vitality when compared with samples analyzed immediately after thawing. No significant differences in recovery rates were observed between media or within the same medium when the two freezing times (3 weeks and 3 months) were compared. CONCLUSION: The addition of sodium citrate and/or fructose to the cryoprotective medium does not improve sperm motility or vitality after freezing.